HuGE Literature Finder
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| Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. Endocrine journal 2019 Jul . Shoji Yasuko, Ida Shinobu, Niihori Tetsuya, Aoki Yoko, Okamoto Nobuhiko, Etani Yuri, Kawai Masano |
| Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study. European journal of endocrinology 2016 Dec 175 (6): 633-643. Stevens Adam, Murray Philip, Wojcik Jerome, Raelson John, Koledova Ekaterina, Chatelain Pierre, Clayton Peter, |
| Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies. Pediatric cardiology 2016 Aug . Jhang Won Kyoung, Choi Jin-Ho, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wo |
| Growth patterns of patients with Noonan syndrome: correlation with age and genotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Feb . Cessans Catie, Ehlinger Virginie, Arnaud Catherine, Yart Armelle, Capri Yline, Barat Pascal, Cammas Benoit, Lacombe Didier, Coutant Regis, David Albert, Baron Sabine, Weill Jacques, Leheup Bruno, Nicolino Marc, Salles Jean-Pierre, Verloes Alain, Tauber Maithe, Cavé Hélène, Edouard Thom |
| Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics 2015 Dec . Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, Okamoto Nobuhiko, Hayashi Shion, Watanabe Atsushi, Yokozawa Masato, Suzumura Hiroshi, Nakahara Akihiko, Nakano Yusuke, Hokosaki Tatsunori, Ohmori Ayumi, Sawada Hirofumi, Migita Ohsuke, Mima Aya, Lapunzina Pablo, Santos-Simarro Fernando, García-Miñaúr Sixto, Ogata Tsutomu, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Kure Shigeo, Aoki Yo |
| New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of human genetics 2015 Nov . ?izmárová M, Hlinková K, Bertok S, Kotnik P, Duba H C, Bertalan R, Polo?ková K, Koš?álová ?, Pribilincová Z, Hlavatá A, Kovács L, Ilen?íková |
| Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
| Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. Revista española de cardiología (English ed.) 2012 May 65 (5): 447-55. Ezquieta Begoña, Santomé José L, Carcavilla Atilano, Guillén-Navarro Encarna, Pérez-Aytés Antonio, Sánchez del Pozo Jaime, García-Miñaur Sixto, Castillo Emilia, Alonso Milagros, Vendrell Teresa, Santana Alfredo, Maroto Enrique, Galbis Lilia |
| Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
| The language phenotype of children and adolescents with Noonan syndrome. Journal of speech, language, and hearing research : JSLHR 2010 Aug 53 (4): 917-32. Pierpont Elizabeth I, Ellis Weismer Susan, Roberts Amy E, Tworog-Dube Erica, Pierpont Mary Ella, Mendelsohn Nancy J, Seidenberg Mark |
| PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genetic testing and molecular biomarkers 2010 Jun 14 (3): 425-32. Brasil Amanda Salem, Pereira Alexandre C, Wanderley Luciana Turolla, Kim Chong Ae, Malaquias Alexsandra C, Jorge Alexander A L, Krieger José Eduardo, Bertola Débora Rom |
| Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 591-600. Pierpont Elizabeth I, Pierpont Mary Ella, Mendelsohn Nancy J, Roberts Amy E, Tworog-Dube Erica, Rauen Katherine A, Seidenberg Mark |
| Genotype differences in cognitive functioning in Noonan syndrome. Genes, brain, and behavior 2009 Apr 8 (3): 275-82. Pierpont E I, Pierpont M E, Mendelsohn N J, Roberts A E, Tworog-Dube E, Seidenberg M |
| PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. Journal of human genetics 2008 53 (11-12): 999-1006. Ko Jung Min, Kim Jae-Min, Kim Gu-Hwan, Yoo Han-Wo |
| Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. European journal of medical genetics 0 53 (3): 117-21. Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui |
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- Page last updated:Jun 27, 2022
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